RBRC-GSC0080, M100451

RBRC No. RBRC-GSC0080
Type Chemically-induced Mutation wks
Species Mus musculus
Strain name M100451
Former Common name No Data
H-2 Haplotype No Data
Background strain No Data
Appearance
1 Appearance brachypodism and ankylosis
Genotype heterozygotes
2 Appearance severe brachypodism, ankylosis of the knee joint, and malformation with early-onset OA of the elbow joint
Genotype homozygotes
Strain description This mutant strain carries an allele of Gdf5 gene, Gdf5<Rgsc451>,
which causes an amino acid substitution (W408R) in a highly conserved
region of the active signaling domain of the GDF5 protein.
Health Report
Gene Details
Promoter
1 Symbol Gdf5
Symbol name growth differentiation factor 5
Chromosome No Data
Common name bp, cartilage-derived morphogenetic protein-1, CDMP-1
Symbol description No Data
References Hum Mol Genet. 2007 Oct 1;16(19):2366-75. Epub 2007 Jul 26.

Research applications Mouse Models for Human Disease
Specific Term and Conditions The following terms and conditions will be requested by the DEPOSITOR.
The RECIPIENT of for-profit institution must contact the DEPOSITOR separately.
The RECIPIENT of not for-profit institution must contact and discuss in good faith with the DEPOSITOR regarding inventorship, ownership, patent filing and licese fees and others, prior to filing a patent or make a contract with license fees with a third party for invention or products obtained from research results by using the BIOLOGICAL RESOURCES.
Additional information
1 Mouse of the Month Sep 2007
2 Genotyping protocol <PCR>
Depositor RIKEN Genomic Sciences Center
Strain Status /
Availability
(Expected delivery)


Frozen
Cryopreserved embryos : Within 1 month
Recovered litters from cryopreserved embryos : 2-4 months

Sperm
Cryopreserved sperm : Within 1 month
Recovered litters from cryopreserved sperm : 2-4 months
BRC mice in Publications
Title Journal
(PMID)
Author
A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice. Hum Mol Genet.16(19): 2366-75 (2007).(17656374)
Masuya H, Nishida K, Furuichi T, Toki H, Nishimura G, Kawabata H, Yokoyama H, Yoshida A, Tominaga S, Nagano J, Shimizu A, Wakana S, Gondo Y, Noda T, Shiroishi T, Ikegawa S.
Growth differentiation factor-5 promotes brown adipogenesis in systemic energy expenditure. Diabetes. (2013).(24062245)
Hinoi E, Nakamura Y, Takada S, Fujita H, Iezaki T, Hashizume S, Takahashi S, Odaka Y, Watanabe T, Yoneda Y.
PI3K/Akt is involved in brown adipogenesis mediated by growth differentiation factor-5 in association with activation of the Smad pathway. Biochem Biophys Res Commun. (2014).(24944017)
Hinoi E, Iezaki T, Fujita H, Watanabe T, Odaka Y, Ozaki K, Yoneda Y.